PAX3 NM_181458.4(PAX3):c.812G>A (p.Arg271His)

CI-VAR-00049516Explore in graph →p.Arg271HisNM_181458.4:c.812G>AClinVar 279964 rs774528745

Curated evidence

Evidence by cancer (0 items)

Grouped by cancer context first, then therapy. The same variant can be sensitizing in one cancer and irrelevant in another — contexts are never merged. 50 items per page; a cancer group may continue on the next page.

Data not yet available

No curated evidence item references this variant yet.

ClinVar

Clinical significance (1)

ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.

clinvarCurated1 interpretation · review status and star rating as assigned by ClinVar.

Variation	Clinical significance	Review status	Stars	Conditions	Origin	Submitters	Last evaluated	Source
279964	Pathogenic	criteria provided, multiple submitters, no conflicts	2	Waardenburg syndrome type 1; Waardenburg syndrome type 3; Alveolar rhabdomyosarcoma; Craniofacial-deafness-hand syndrome; PAX3-related disorder	germline	7	Jul 27, 2025	clinvar